Artiklar inom Fabrys sjukdom

Fabry disease is an X-linked lysosomal storage disease due to a defect in the gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A), causing progressive cellular accumulation of the substrate globotriaosylceramide (GL-3) and globo-triaosylsphingosine (lyso-GL-3).

The examination of α-Gal A enzymatic activity can be performed on a Dried Blood Spot (DBS) test. Determination of pronounced α-Gal A deficiency is the definitive method of diagnosis in men.